Research students are welcomed to Brunel as valued members of our thriving, research-intensive community. A research degree provides the opportunity to investigate a topic in depth, and contribute new knowledge to your discipline. Find out more about Research Degrees at Brunel.
Investigating molecular disease mechanisms and therapy of Friedreich ataxia
Friedreich ataxia (FRDA) is a lethal inherited disease caused by GAA trinucleotide repeat expansion mutation within the FXN gene, leading to epigenetic modification of the FXN gene, decreased levels of frataxin expression, mitochondrial dysfunction, oxidative stress and cell death. The main areas of the body that are affected are the sensory nervous system, heart and pancreas, resulting in a clinical spectrum of uncoordinated movement (ataxia), heart failure and diabetes. The precise molecular disease effects of frataxin deficiency are unknown and there is currently no effective treatment for this disease.
This PhD project will involve molecular and cellular techniques to investigate FRDA disease mechanisms and therapy using FRDA patient and FRDA mouse model cells and tissues. In particular, experiments will be performed to understand the role of FXN gene GAA repeat expansion mutation instability in disease progression and disease tissue specificity and the role of frataxin deficiency in oxidative stress, DNA damage and cell death. Preclinical therapeutic studies will be performed to test the effect of frataxin-increasing drug compounds and FXN gene therapy on FRDA cells and mouse models with the ultimate aim to develop potential novel therapies for FRDA.
- Dr Mark Pook
- Dr Michael Themis
Funding for doctoral studies
A number of studentships and other research funding opportunities are available at Brunel. Please see full list here: Research degree funding.
Choosing your supervisor
Our researchers create knowledge and advance understanding, and equip versatile graduates with the confidence to apply what they have learnt for the benefit of society. Browse the list of the members of our Theme to select your potential supervisor here. You are welcome to approach your potential supervisor directly to discuss your research interests.
All research degrees are administered by the Postgraduate Programmes Office in Colleges. Once you have identified your area of research and a potential supervisor, please use the contact details provided here for enquiries.